Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations

Roxann G. Ingersoll, Jacqueline Hetmanski, Ji Wan Park, M. Daniele Fallin, Iain McIntosh, Yah Huei Wu-Chou, Philip K. Chen, Vincent Yeow, Samuel S. Chong, Felicia Cheah, Jae Woong Sull, Sun Ha Jee, Hong Wang, Tao Wu, Tanda Murray, Shangzhi Huang, Xiaoqian Ye, Ethylin Wang Jabs, Richard Redett, Gerald Raymond & 2 others Alan F. Scott, Terri H. Beaty

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Isolated cleft lip with or without cleft palate and cleft palate are among the most common human birth defects. Several candidate gene studies on MSX1 have shown significant association between markers in MSX1 and risk of oral clefts, and re-sequencing studies have identified multiple mutations in MSX1 in a small minority of cases, which may account for 1-2% of all isolated oral clefts cases. We explored the 2-Mb region around MSX1, using a marker map of 393 single nucleotide polymorphisms (SNPs) in 297 cleft lip, with or without cleft palate, case-parent trios and 84 cleft palate trios from Maryland, Taiwan, Singapore, and Korea. Both individual markers and haplotypes of two to five SNPs showed several regions yielding statistical evidence for linkage and disequilibrium. Two genes (STK32B and EVC) yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations. These two genes plus EVC2 also yielded suggestive evidence for linkage and disequilibrium among cleft palate trios. This analysis suggests that several genes, not just MSX1, in this region may influence risk of oral clefts.

Original languageEnglish
Pages (from-to)726-732
Number of pages7
JournalEuropean Journal of Human Genetics
Volume18
Issue number6
DOIs
Publication statusPublished - Jun 1 2010
Externally publishedYes

Fingerprint

Cleft Palate
Chromosomes
Cleft Lip
Population
Genes
Linkage Disequilibrium
Single Nucleotide Polymorphism
Singapore
Korea
Taiwan
Haplotypes
Mutation

Keywords

  • Chromosome 4p16
  • Cleft lip with or without cleft palate
  • Cleft palate
  • MSX1
  • Oral clefts

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Ingersoll, R. G., Hetmanski, J., Park, J. W., Fallin, M. D., McIntosh, I., Wu-Chou, Y. H., ... Beaty, T. H. (2010). Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations. European Journal of Human Genetics, 18(6), 726-732. https://doi.org/10.1038/ejhg.2009.228

Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations. / Ingersoll, Roxann G.; Hetmanski, Jacqueline; Park, Ji Wan; Fallin, M. Daniele; McIntosh, Iain; Wu-Chou, Yah Huei; Chen, Philip K.; Yeow, Vincent; Chong, Samuel S.; Cheah, Felicia; Sull, Jae Woong; Jee, Sun Ha; Wang, Hong; Wu, Tao; Murray, Tanda; Huang, Shangzhi; Ye, Xiaoqian; Jabs, Ethylin Wang; Redett, Richard; Raymond, Gerald; Scott, Alan F.; Beaty, Terri H.

In: European Journal of Human Genetics, Vol. 18, No. 6, 01.06.2010, p. 726-732.

Research output: Contribution to journalArticle

Ingersoll, RG, Hetmanski, J, Park, JW, Fallin, MD, McIntosh, I, Wu-Chou, YH, Chen, PK, Yeow, V, Chong, SS, Cheah, F, Sull, JW, Jee, SH, Wang, H, Wu, T, Murray, T, Huang, S, Ye, X, Jabs, EW, Redett, R, Raymond, G, Scott, AF & Beaty, TH 2010, 'Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations', European Journal of Human Genetics, vol. 18, no. 6, pp. 726-732. https://doi.org/10.1038/ejhg.2009.228
Ingersoll, Roxann G. ; Hetmanski, Jacqueline ; Park, Ji Wan ; Fallin, M. Daniele ; McIntosh, Iain ; Wu-Chou, Yah Huei ; Chen, Philip K. ; Yeow, Vincent ; Chong, Samuel S. ; Cheah, Felicia ; Sull, Jae Woong ; Jee, Sun Ha ; Wang, Hong ; Wu, Tao ; Murray, Tanda ; Huang, Shangzhi ; Ye, Xiaoqian ; Jabs, Ethylin Wang ; Redett, Richard ; Raymond, Gerald ; Scott, Alan F. ; Beaty, Terri H. / Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations. In: European Journal of Human Genetics. 2010 ; Vol. 18, No. 6. pp. 726-732.
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